Varaico: Literature-Extracted Genetic Variants

Gene:AASS
Variant:p.L79F
Back to variants list

AASS

NM_005763.4:p.L79F

Associated Papers

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.

Melchionda L et al.

American Journal of Human Genetics, 2014

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."